Mental Retardation(possible but does not worsen over time)
Muscle Weakness
Begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other areas of the body.
Difficulty with motor skills (running, hopping, jumping)
Frequent falls
Rapidly worsening weakness.
3. When is the disease usually detected... at birth or later in life?- Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.
4. Frequency of carriers of this disease in the population - males are more likely to develop symptoms than are women. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers.
5. Frequency of disease in the population - Duchenne muscular dystrophy occurs in approximately 1 out of every 3,600 male infants.
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction? - This diseases is x-linked because its found on the x chromosome.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?- It's on the x-linked
8. What chromosome number has been determined to carry this gene? - The X chromosome, this disease is caused by a mutation of the gene DMD which codes for dystrophin, a protein that provide structural stability for a membrane protein complex, the dystroglycan complex. The gene is located on the X chromosome and the disease is x-linked recessive.
9. What treatment, if any, is used for this disease? How does the treatment affect the disease? - There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to maximize quality of life. Gene therapy may become available in the future.
10. What is the prognosis or outlook for your baby's recovery? -Duchenne muscular dystrophy leads to quickly worsening disability. Death usually occurs by age 25, typically from lung disorders.
11. What future techniques might be used to correct or eliminate your baby's disease?
You can't prevent it, it is inherited.
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
Special schools, medical problems, muscle weakness in the child's muscles, the ability for the child not to walk.
13. Include diagrams of your child or factors related to your disease.
1. Duchenne Muscular Dystrophy.
3. When is the disease usually detected... at birth or later in life?- Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.
4. Frequency of carriers of this disease in the population - males are more likely to develop symptoms than are women. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers.
5. Frequency of disease in the population - Duchenne muscular dystrophy occurs in approximately 1 out of every 3,600 male infants.
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction? - This diseases is x-linked because its found on the x chromosome.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?- It's on the x-linked
8. What chromosome number has been determined to carry this gene? - The X chromosome, this disease is caused by a mutation of the gene DMD which codes for dystrophin, a protein that provide structural stability for a membrane protein complex, the dystroglycan complex. The gene is located on the X chromosome and the disease is x-linked recessive.
9. What treatment, if any, is used for this disease? How does the treatment affect the disease? - There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to maximize quality of life. Gene therapy may become available in the future.
10. What is the prognosis or outlook for your baby's recovery? -Duchenne muscular dystrophy leads to quickly worsening disability. Death usually occurs by age 25, typically from lung disorders.
11. What future techniques might be used to correct or eliminate your baby's disease?
You can't prevent it, it is inherited.
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
Special schools, medical problems, muscle weakness in the child's muscles, the ability for the child not to walk.
13. Include diagrams of your child or factors related to your disease.